Canonical Allele Identifier: CA505743353
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11230773A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120097A>G , CM000681.2:g.11120097A>G GRCh38
NC_000019.9:g.11230773A>G , CM000681.1:g.11230773A>G GRCh37
NC_000019.8:g.11091773A>G NCBI36
NG_009060.1:g.35717A>G , LRG_274:g.35717A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2109A>G ENSP00000252444.6:p.Lys703=
ENST00000559340.2:c.1711A>G ENSP00000453696.2:p.Ser571Gly
ENST00000560467.2:c.1731A>G ENSP00000453513.2:p.Lys577=
ENST00000558518.6:c.1851A>G MANE Select ENSP00000454071.1:p.Lys617=
ENST00000252444.9:c.2105A>G
ENST00000455727.6:c.1347A>G ENSP00000397829.2:p.Lys449=
ENST00000535915.5:c.1728A>G ENSP00000440520.1:p.Lys576=
ENST00000545707.5:c.1470A>G ENSP00000437639.1:p.Lys490=
ENST00000557933.5:c.1851A>G ENSP00000453557.1:p.Lys617=
ENST00000558013.5:c.1851A>G ENSP00000453346.1:p.Lys617=
ENST00000558518.5:c.1851A>G ENSP00000454071.1:p.Lys617=
ENST00000559340.1:c.432A>G
NM_000527.4:c.1851A>G , LRG_274t1:c.1851A>G NP_000518.1:p.Lys617=
NM_001195798.1:c.1851A>G NP_001182727.1:p.Lys617=
NM_001195799.1:c.1728A>G NP_001182728.1:p.Lys576=
NM_001195800.1:c.1347A>G NP_001182729.1:p.Lys449=
NM_001195803.1:c.1470A>G NP_001182732.1:p.Lys490=
XM_011528010.1:c.1851A>G XP_011526312.1:p.Lys617=
XM_011528011.1:c.1470A>G XP_011526313.1:p.Lys490=
XR_244074.2:n.1861A>G
XM_011528010.2:c.1851A>G XP_011526312.1:p.Lys617=
XR_001753685.2:n.1968A>G
XR_001753686.2:n.1828A>G
NM_000527.5:c.1851A>G MANE Select NP_000518.1:p.Lys617=
NM_001195798.2:c.1851A>G NP_001182727.1:p.Lys617=
NM_001195799.2:c.1728A>G NP_001182728.1:p.Lys576=
NM_001195800.2:c.1347A>G NP_001182729.1:p.Lys449=
NM_001195803.2:c.1470A>G NP_001182732.1:p.Lys490=
Search 100 bp 5'
Search 100 bp 3'